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Gene sequencing

Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss

Hong Xia, Xiangjun Huang, Yi Guo, Pengzhi Hu, Guangxiang He, Xiong Deng, Hongbo Xu, Zhijian Yang, Hao Deng

published 26 Aug 2015

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Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism

Yang Yang, Bei-sha Tang, Ling Weng, Nan Li, Lu Shen, Jian Wang, Chuan-tao Zuo, Xin-xiang Yan, Kun Xia, Ji-feng Guo

published 21 Aug 2015

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16S rRNA Gene Sequence-Based Identification of Bacteria in Automatically Incubated Blood Culture Materials from Tropical Sub-Saharan Africa

Hagen Frickmann, Denise Dekker, Norbert Georg Schwarz, Andreas Hahn, Kennedy Boahen, Nimako Sarpong, Yaw Adu-Sarkodie, Eva Halbgewachs, Florian Marks, Vera von Kalckreuth, Sven Poppert, Ulrike Loderstaedt, Jürgen May, Ralf Matthias Hagen

published 13 Aug 2015

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New Delhi Metallo-β-Lactamase 1(NDM-1), the Dominant Carbapenemase Detected in Carbapenem-Resistant Enterobacter cloacae from Henan Province, China

Cailin Liu, Shangshang Qin, Hui Xu, Lijuan Xu, Di Zhao, Xuchun Liu, Shaolei Lang, Xianju Feng, Hong-Min Liu

published 11 Aug 2015

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Identification of Candidate Coral Pathogens on White Band Disease-Infected Staghorn Coral

Sarah A. Gignoux-Wolfsohn, Steven V. Vollmer

published 04 Aug 2015

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A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer

Liu Yang, Guosheng Wang, Xinyi Zhao, Song Ye, Peng Shen, Weilin Wang, Shusen Zheng

published 04 Aug 2015

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Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants

Maria Delio, Kunjan Patel, Alex Maslov, Robert W. Marion, Thomas V. McDonald, Evan M. Cadoff, Aaron Golden, John M. Greally, Jan Vijg, Bernice Morrow, Cristina Montagna

published 27 Jul 2015

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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

published 21 Jul 2015

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Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang

published 10 Jul 2015

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An Efficient Method for Identifying Gene Fusions by Targeted RNA Sequencing from Fresh Frozen and FFPE Samples

Jonathan A. Scolnick, Michelle Dimon, I-Ching Wang, Stephanie C. Huelga, Douglas A. Amorese

published 01 Jul 2015

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How Many Genes Are Expressed in a Transcriptome? Estimation and Results for RNA-Seq

Luis Fernando García-Ortega, Octavio Martínez

published 24 Jun 2015

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Intra-Genomic Heterogeneity in 16S rRNA Genes in Strictly Anaerobic Clinical Isolates from Periodontal Abscesses

Jiazhen Chen, Xinyu Miao, Meng Xu, Junlin He, Yi Xie, Xingwen Wu, Gang Chen, Liying Yu, Wenhong Zhang

published 23 Jun 2015

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JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, Xiaohong Wang, Hongmei Guo, Huijun Wang, Jing Zhao, Yiling Qiu, Kuerbanjiang Abuduxikuer, Jianshe Wang

published 15 Jun 2015

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